Stargardt disease: progress, enigmas, and prospects for therapeutic intervention

Stargardt disease (STGD1), caused by sequence variants in the ABCA4 gene, is the most prevalent inherited macular dystrophy. Substantial advancements have been made in recent years in elucidating the molecular characteristics of the ABCA4 protein and its role in the pathophysiology of STGD1.
This perspective summarizes recent advances in therapeutic strategies for STGD1, including dietary supplements, drug intervention, and gene therapies. Key findings from both clinical and preclinical studies are highlighted with a focus on their translational potential.
We provide perspectives on the current trajectory of therapeutic development, addressing both opportunities and challenges that remain. While ongoing research holds strong promise for effective treatments, substantial work is still required to overcome barriers to clinical implementation.